OBO ID: DOID:0111002
Term Name: Joubert syndrome 7 Search Ontology:
Synonyms:
  • JBTS7
Definition: A Joubert syndrome that has_material_basis_in mutation in the RPGRIP1L gene on chromosome 16q12.2. https://www.ncbi.nlm.nih.gov/pubmed/17558409
References:
Ontology: Human Disease   ( DOID:0111002 )
OTHER Joubert syndrome 7 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RPGRIP1L Joubert syndrome 7 611560
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None